title: Oligonucleotide array CGH studies in myeloproliferative neoplasms: comparison with JAK2V617F mutational status and conventional chromosome analysis.
abstract: Comparative genomic hybridization (CGH), using oligo arrays with either 44,000 or 105,000 oligonucleotides, was performed on granulocyte-derived DNA from 71 patients with BCR-ABL-negative classic myeloproliferative neoplasms (MPNs): 32 primary myelofibrosis (PMF), 26 polycythemia vera (PV) and 13 essential thrombocythemia (ET). Copy number changes (CNCs) were detected in 44%, 35%, and 15% of the cases with PMF, PV and ET, respectively. In ET and PMF, CNCs were more frequently detected in the presence of JAK2V617F (50% vs. 19%; p=0.05). Conventional chromosome analysis was obtained in 57 patients either at diagnosis or within 1 year of the array CGH study; all 21 patients with PV and 11 with ET displayed normal cytogenetic findings despite the presence of CNCs in 29% and 18%, respectively. In PMF, the respective rates of CNCs and abnormal karyotype were 48% and 36%; karyotypic abnormalities, including unbalanced translocations, were often detected by array CGH as chromosomal gains or losses. This preliminary report suggests a potential value for array CGH in terms of both clinical diagnostics and genomic research in MPNs.
authors.affiliation: Mayo Clinic, Rochester, MN, USA. tefferi.ayalew@mayo.edu
authors.forename: Ayalew
authors.initials: A
authors.lastname: Tefferi
authors.forename: Shireen
authors.initials: S
authors.lastname: Sirhan
authors.forename: Yi
authors.initials: Y
authors.lastname: Sun
authors.forename: Terra
authors.initials: T
authors.lastname: Lasho
authors.forename: Christy M
authors.initials: CM
authors.lastname: Finke
authors.forename: James
authors.initials: J
authors.lastname: Weisberger
authors.forename: Sherri
authors.initials: S
authors.lastname: Bale
authors.forename: John
authors.initials: J
authors.lastname: Compton
authors.forename: Charles A
authors.initials: CA
authors.lastname: LeDuc
authors.forename: Animesh
authors.initials: A
authors.lastname: Pardanani
authors.forename: Erik C
authors.initials: EC
authors.lastname: Thorland
authors.forename: Yuriy
authors.initials: Y
authors.lastname: Shevchenko
authors.forename: Marc
authors.initials: M
authors.lastname: Grodman
authors.forename: Wendy K
authors.initials: WK
authors.lastname: Chung
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002869:Chromosome Aberrations; D005260:Female; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D020411:Oligonucleotide Array Sequence Analysis
chemical_list: D053614:Janus Kinase 2